Canonical Allele Identifier: CA1087498065
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs554941446
gnomAD v3: 6-32038342-A-G
gnomAD v4: 6-32038342-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038342A>G , CM000668.2:g.32038342A>G GRCh38
NC_000006.11:g.32006119A>G , CM000668.1:g.32006119A>G GRCh37
NC_000006.10:g.32114098A>G NCBI36
NG_007941.2:g.5038A>G
NG_007941.3:g.5038A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000418967.6:c.-81A>G ENSP00000408860.2:n.-81A>G
ENST00000466779.5:c.-81A>G ENSP00000417321.1:n.-81A>G
ENST00000486063.5:n.3A>G
NM_000500.7:c.-81A>G NP_000491.4:n.-81A>G
NM_001128590.3:c.-81A>G NP_001122062.3:n.-81A>G
NM_001368143.1:c.-505A>G NP_001355072.1:n.-505A>G
NM_001368144.1:c.-415A>G NP_001355073.1:n.-415A>G